Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration (Q24316772)

GOA release 2020-03-11

bicarbonate transport

1 reference

GOA release 2020-03-11

15

Frans P Cremers

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Anneke den Hollander

12

object named as

Anneke I Den Hollander

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Bernd Wissinger

11

object named as

Bernd Wissinger

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author name string

Zhenglin Yang

1

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Bernardo V Alvarez

2

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Christina Chakarova

3

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Li Jiang

4

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Goutam Karan

5

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Jeanne M Frederick

6

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Yu Zhao

7

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Yves Sauvé

8

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Xi Li

9

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Eberhart Zrenner

10

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Bradley Katz

13

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Wolfgang Baehr

14

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Joseph R Casey

16

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Shomi S Bhattacharya

17

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Kang Zhang

On the molecular genetics of retinitis pigmentosa

18

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language of work or name

English

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publication date

15 January 2005

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published in

Human Molecular Genetics

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volume

14

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issue

2

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page(s)

255-65

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cites work

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Compartmentalization of calcium extrusion mechanisms in the outer and inner segments of photoreceptors

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Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

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Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter

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Localization of carbonic anhydrase IV in a specific capillary bed of the human eye

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Crystal structure of the secretory form of membrane-associated human carbonic anhydrase IV at 2.8-A resolution

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Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranes

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Expression cloning and characterization of a renal electrogenic Na+/HCO3- cotransporter

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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Intracellular pH measurements in Ehrlich ascites tumor cells utilizing spectroscopic probes generated in situ

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Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients

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Na+:HCO(3-) cotransporters (NBC): cloning and characterization

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Hydrogen ion effects of the vertebrate photoreceptor. The pK's of ionizable groups affecting cell permeability

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Buffer dependence of retinal glycolysis and ERG potentials

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Sulfhydryl binding reagents increase the conductivity of the light-sensitive channel and inhibit phototransduction in retinal rods

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The effects of hepes, bicarbonate and calcium on the cGMP content of vertebrate rod photoreceptors and the isolated electrophysiological effects of cGMP and calcium

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Inhibition of the cardiac electrogenic sodium bicarbonate cotransporter reduces ischemic injury

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Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities

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A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

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The electrogenic Na/HCO3 cotransporter

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Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3

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The extracellular component of a transport metabolon. Extracellular loop 4 of the human AE1 Cl-/HCO3- exchanger binds carbonic anhydrase IV

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Functional activation of plasma membrane anion exchangers occurs in a pre-Golgi compartment

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Intracellular pH transients in squid giant axons caused by CO2, NH3, and metabolic inhibitors

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An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q

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Protons suppress the dark current of frog retinal rods

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Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations

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Cloning and characterization of a human electrogenic Na+-HCO-3 cotransporter isoform (hhNBC)

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Electroretinal changes in the presence of a carbonic anhydrase inhibitor

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